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MGP007059

UniProt Annotations

Entry Information
Gene NameNADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
Protein EntryNDUS7_HUMAN
UniProt IDO75251
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75251-1; Sequence=Displayed; Name=2; IsoId=O75251-2; Sequence=VSP_057067; Note=No experimental confirmation available.;
Catalytic ActivityNADH + acceptor = NAD(+) + reduced acceptor.
Catalytic ActivityNADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).
CofactorName=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence={ECO:0000305}; Note=Binds 1 [4Fe-4S] cluster. {ECO:0000305};
DiseaseLeigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:10360771}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269|PubMed:10330338}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCore subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). {ECO:0000250}.
Sequence CautionSequence=AAC27669.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the complex I 20 kDa subunit family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitComplex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme. {ECO:0000269|PubMed:12611891}.
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